| X | g.30304157_30306387delinsTGGAAATTATATATATTTCCAAATAAA | CA2580100530 | | | ClinVar |
| X | g.30304561_30304935delinsTGTGTGGCCCACATGACTTTATATCTTTGTACAGAGCATTTCCAGCATCATATCATCCATGCTGACTGTGCCGATGATGGGCCTGAAGAACAGTTCAGCAATGACATTGGCATTGATGAATCTCAGCAGGAAAAGGGTACTATTAAGTTCGATGAATCTGTCATGGGGCCCTTGGTGCGTCATCCTGGTGTGTTCACTGAGTATTTGCTGAGTTCCCCACTGGAGTCCCTGAATGTACTTCACGCACTGCAGGCCCGGCACGTCTGGAGGGAGAAAAATCTCTTTGTTATAAAACAGCTCACCACAGAGTCCTTTGCTAGCTTTTTAAAAATAGCCATTTCTGTTTCATCCCAATTAAACAAGACCCAAAGCTTC | CA2422039158 | NR0B1 | c.1169-112_*18delinsGAAGCTTTGGGTCTTGTTTAATTGGGATGAAACAGAAATGGCTATTTTTAAAAAGCTAGCAAAGGACTCTGTGGTGAGCTGTTTTATAACAAAGAGATTTTTCTCCCTCCAGACGTGCCGGGCCTGCAGTGCGTGAAGTACATTCAGGGACTCCAGTGGGGAACTCAGCAAATACTCAGTGAACACACCAGGATGACGCACCAAGGGCCCCATGACAGATTCATCGAACTTAATAGTACCCTTTTCCTGCTGAGATTCATCAATGCCAATGTCATTGCTGAACTGTTCTTCAGGCCCATCATCGGCACAGTCAGCATGGATGATATGATGCTGGAAATGCTCTGTACAAAGATATAAAGTCATGTGGGCCACACA
| |
| X | g.30304562_30304935delinsCA | CA658653867 | NR0B1 | c.1169-112_*17delinsTG
| ClinVar dbSNP |
| X | g.30304774T>A | CA515716793 | NR0B1 | c.1218A>T (p.Gly406=)
| |
| X | g.30304774T>C | CA515716803 | NR0B1 | c.1218A>G (p.Gly406=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.30304774T>G | CA515716798 | NR0B1 | c.1218A>C (p.Gly406=)
| |
| X | g.30304774T= | CA2422039224 | NR0B1 | c.1218A= (p.Gly406=)
| |
| X | g.30304775C>A | CA412545535 | NR0B1 | c.1217G>T (p.Gly406Val)
| |
| X | g.30304775C>G | CA412545533 | NR0B1 | c.1217G>C (p.Gly406Ala)
| |
| X | g.30304775C>T | CA412545531 | NR0B1 | c.1217G>A (p.Gly406Glu)
| |
| X | g.30304778dup | CA2695232153 | NR0B1 | c.1217dup (p.Thr407AsnfsTer7)
| |
| X | g.30304776C>A | CA412545536 | NR0B1 | c.1216G>T (p.Gly406Ter)
| |
| X | g.30304776C>G | CA412545540 | NR0B1 | c.1216G>C (p.Gly406Arg)
| |
| X | g.30304776C>T | CA412545538 | NR0B1 | c.1216G>A (p.Gly406Arg)
| |
| X | g.30304777C>A | CA412545544 | NR0B1 | c.1215G>T (p.Trp405Cys)
| |
| X | g.30304777C>G | CA412545547 | NR0B1 | c.1215G>C (p.Trp405Cys)
| |
| X | g.30304777C>T | CA412545545 | NR0B1 | c.1215G>A (p.Trp405Ter)
| |
| X | g.30304778C>A | CA412545549 | NR0B1 | c.1214G>T (p.Trp405Leu)
| |
| X | g.30304778C>G | CA412545550 | NR0B1 | c.1214G>C (p.Trp405Ser)
| |
| X | g.30304778C>T | CA412545552 | NR0B1 | c.1214G>A (p.Trp405Ter)
| |
| X | g.30304779A= | CA2422039225 | NR0B1 | c.1213T= (p.Trp405=)
| |
| X | g.30304779A>C | CA412545555 | NR0B1 | c.1213T>G (p.Trp405Gly)
| |
| X | g.30304779A>G | CA412545557 | NR0B1 | c.1213T>C (p.Trp405Arg)
| |
| X | g.30304779A>T | CA412545558 | NR0B1 | c.1213T>A (p.Trp405Arg)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.30304780C>A | CA412545561 | NR0B1 | c.1212G>T (p.Gln404His)
| |
| X | g.30304780C>G | CA412545563 | NR0B1 | c.1212G>C (p.Gln404His)
| |
| X | g.30304780C>T | CA515716831 | NR0B1 | c.1212G>A (p.Gln404=)
| |
| X | g.30304781T>A | CA412545566 | NR0B1 | c.1211A>T (p.Gln404Leu)
| COSMIC |
| X | g.30304781T>C | CA412545568 | NR0B1 | c.1211A>G (p.Gln404Arg)
| |
| X | g.30304781T>G | CA412545569 | NR0B1 | c.1211A>C (p.Gln404Pro)
| |
| X | g.30304782G>A | CA412545577 | NR0B1 | c.1210C>T (p.Gln404Ter)
| |
| X | g.30304782G>C | CA412545574 | NR0B1 | c.1210C>G (p.Gln404Glu)
| |
| X | g.30304782G>T | CA412545573 | NR0B1 | c.1210C>A (p.Gln404Lys)
| |
| X | g.30304783G>A | CA515716844 | NR0B1 | c.1209C>T (p.Leu403=)
| |
| X | g.30304783G>C | CA327974213 | NR0B1 | c.1209C>G (p.Leu403=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.30304783G= | CA2422039226 | NR0B1 | c.1209C= (p.Leu403=)
| |
| X | g.30304783G>T | CA515716843 | NR0B1 | c.1209C>A (p.Leu403=)
| |
| X | g.30304784A>C | CA412545579 | NR0B1 | c.1208T>G (p.Leu403Arg)
| |
| X | g.30304784A>G | CA412545581 | NR0B1 | c.1208T>C (p.Leu403Pro)
| |
| X | g.30304784A>T | CA412545583 | NR0B1 | c.1208T>A (p.Leu403His)
| |
| X | g.30304785G>A | CA412545586 | NR0B1 | c.1207C>T (p.Leu403Phe)
| |
| X | g.30304785G>C | CA412545588 | NR0B1 | c.1207C>G (p.Leu403Val)
| |
| X | g.30304785G>T | CA412545589 | NR0B1 | c.1207C>A (p.Leu403Ile)
| |
| X | g.30304786T>A | CA515716860 | NR0B1 | c.1206A>T (p.Gly402=)
| |
| X | g.30304786T>C | CA515716862 | NR0B1 | c.1206A>G (p.Gly402=)
| |
| X | g.30304786T>G | CA10376277 | NR0B1 | c.1206A>C (p.Gly402=)
| dbSNP ExAC |
| X | g.30304786T= | CA2422039227 | NR0B1 | c.1206A= (p.Gly402=)
| |
| X | g.30304787C>A | CA412545594 | NR0B1 | c.1205G>T (p.Gly402Val)
| |
| X | g.30304787C>G | CA412545596 | NR0B1 | c.1205G>C (p.Gly402Ala)
| |
| X | g.30304787C>T | CA412545598 | NR0B1 | c.1205G>A (p.Gly402Glu)
| gnomAD v4 |
| X | g.30304788C>A | CA412545600 | NR0B1 | c.1204G>T (p.Gly402Ter)
| COSMIC |
| X | g.30304788C>G | CA412545602 | NR0B1 | c.1204G>C (p.Gly402Arg)
| |
| X | g.30304788C>T | CA412545604 | NR0B1 | c.1204G>A (p.Gly402Arg)
| |
| X | g.30304789C>A | CA412545609 | NR0B1 | c.1203G>T (p.Gln401His)
| |
| X | g.30304789C>G | CA412545607 | NR0B1 | c.1203G>C (p.Gln401His)
| |
| X | g.30304789C>T | CA515716879 | NR0B1 | c.1203G>A (p.Gln401=)
| gnomAD v4 |
| X | g.30304790T>A | CA327974221 | NR0B1 | c.1202A>T (p.Gln401Leu)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.30304790T>C | CA412545613 | NR0B1 | c.1202A>G (p.Gln401Arg)
| |
| X | g.30304790T>G | CA412545615 | NR0B1 | c.1202A>C (p.Gln401Pro)
| |
| X | g.30304790T= | CA2422039228 | NR0B1 | c.1202A= (p.Gln401=)
| |
| X | g.30304791G>A | CA412545617 | NR0B1 | c.1201C>T (p.Gln401Ter)
| ClinVar |
| X | g.30304791G>C | CA412545619 | NR0B1 | c.1201C>G (p.Gln401Glu)
| |
| X | g.30304791G= | CA2422039229 | NR0B1 | c.1201C= (p.Gln401=)
| |
| X | g.30304791G>T | CA10376278 | NR0B1 | c.1201C>A (p.Gln401Lys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.30304792A>C | CA412545622 | NR0B1 | c.1200T>G (p.Ile400Met)
| |
| X | g.30304792A>G | CA515716894 | NR0B1 | c.1200T>C (p.Ile400=)
| |
| X | g.30304792A>T | CA515716896 | NR0B1 | c.1200T>A (p.Ile400=)
| |
| X | g.30304793A>C | CA412545629 | NR0B1 | c.1199T>G (p.Ile400Ser)
| |
| X | g.30304793A>G | CA412545625 | NR0B1 | c.1199T>C (p.Ile400Thr)
| gnomAD v4 |
| X | g.30304793A>T | CA412545627 | NR0B1 | c.1199T>A (p.Ile400Asn)
| |
| X | g.30304794T>A | CA412545631 | NR0B1 | c.1198A>T (p.Ile400Phe)
| |
| X | g.30304794T>C | CA10376279 | NR0B1 | c.1198A>G (p.Ile400Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30304794T>G | CA412545634 | NR0B1 | c.1198A>C (p.Ile400Leu)
| |
| X | g.30304794T= | CA2422039230 | NR0B1 | c.1198A= (p.Ile400=)
| |
| X | g.30304795G>A | CA515716910 | NR0B1 | c.1197C>T (p.Tyr399=)
| |
| X | g.30304795G>C | CA412545636 | NR0B1 | c.1197C>G (p.Tyr399Ter)
| |
| X | g.30304795G= | CA2422039231 | NR0B1 | c.1197C= (p.Tyr399=)
| |
| X | g.30304795G>T | CA255640 | NR0B1 | c.1197C>A (p.Tyr399Ter)
| ClinVar dbSNP |
| X | g.30304796T>A | CA412545640 | NR0B1 | c.1196A>T (p.Tyr399Phe)
| |
| X | g.30304796T>C | CA412545644 | NR0B1 | c.1196A>G (p.Tyr399Cys)
| ClinVar dbSNP |
| X | g.30304796T>G | CA412545642 | NR0B1 | c.1196A>C (p.Tyr399Ser)
| |
| X | g.30304797A>C | CA412545646 | NR0B1 | c.1195T>G (p.Tyr399Asp)
| |
| X | g.30304797A>G | CA412545648 | NR0B1 | c.1195T>C (p.Tyr399His)
| |
| X | g.30304797A>T | CA412545664 | NR0B1 | c.1195T>A (p.Tyr399Asn)
| |
| X | g.30304798C>A | CA412545665 | NR0B1 | c.1194G>T (p.Lys398Asn)
| |
| X | g.30304798C= | CA2422039232 | NR0B1 | c.1194G= (p.Lys398=)
| |
| X | g.30304798C>G | CA412545666 | NR0B1 | c.1194G>C (p.Lys398Asn)
| |
| X | g.30304798C>T | CA327974249 | NR0B1 | c.1194G>A (p.Lys398=)
| dbSNP |
| X | g.30304799T>A | CA412545667 | NR0B1 | c.1193A>T (p.Lys398Met)
| |
| X | g.30304799T>C | CA412545668 | NR0B1 | c.1193A>G (p.Lys398Arg)
| |
| X | g.30304799T>G | CA412545669 | NR0B1 | c.1193A>C (p.Lys398Thr)
| |
| X | g.30304800T>A | CA412545670 | NR0B1 | c.1192A>T (p.Lys398Ter)
| |
| X | g.30304800T>C | CA412545671 | NR0B1 | c.1192A>G (p.Lys398Glu)
| COSMIC |
| X | g.30304800T>G | CA412545672 | NR0B1 | c.1192A>C (p.Lys398Gln)
| |
| X | g.30304801C>A | CA515716941 | NR0B1 | c.1191G>T (p.Val397=)
| |
| X | g.30304801C>G | CA515716943 | NR0B1 | c.1191G>C (p.Val397=)
| |
| X | g.30304801C>T | CA515716945 | NR0B1 | c.1191G>A (p.Val397=)
| |
| X | g.30304802A>C | CA412545673 | NR0B1 | c.1190T>G (p.Val397Gly)
| |
| X | g.30304802A>G | CA412545675 | NR0B1 | c.1190T>C (p.Val397Ala)
| |
| X | g.30304802A>T | CA412545674 | NR0B1 | c.1190T>A (p.Val397Glu)
| |
| X | g.30304803C>A | CA412545676 | NR0B1 | c.1189G>T (p.Val397Leu)
| |
| X | g.30304803C= | CA2422039233 | NR0B1 | c.1189G= (p.Val397=)
| |
| X | g.30304803C>G | CA412545679 | NR0B1 | c.1189G>C (p.Val397Leu)
| |
| X | g.30304803C>T | CA412545677 | NR0B1 | c.1189G>A (p.Val397Met)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30304804G>A | CA10376280 | NR0B1 | c.1188C>T (p.Cys396=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30304804G>C | CA412545682 | NR0B1 | c.1188C>G (p.Cys396Trp)
| |
| X | g.30304804G= | CA2422039234 | NR0B1 | c.1188C= (p.Cys396=)
| |
| X | g.30304804G>T | CA412545684 | NR0B1 | c.1188C>A (p.Cys396Ter)
| |
| X | g.30304805C>A | CA412545686 | NR0B1 | c.1187G>T (p.Cys396Phe)
| |
| X | g.30304805C>G | CA412545688 | NR0B1 | c.1187G>C (p.Cys396Ser)
| |
| X | g.30304805C>T | CA412545690 | NR0B1 | c.1187G>A (p.Cys396Tyr)
| |
| X | g.30304806A>C | CA412545694 | NR0B1 | c.1186T>G (p.Cys396Gly)
| |
| X | g.30304806A>G | CA412545696 | NR0B1 | c.1186T>C (p.Cys396Arg)
| |
| X | g.30304806A>T | CA412545697 | NR0B1 | c.1186T>A (p.Cys396Ser)
| |
| X | g.30304807C>A | CA412545700 | NR0B1 | c.1185G>T (p.Gln395His)
| |
| X | g.30304807C>G | CA412545702 | NR0B1 | c.1185G>C (p.Gln395His)
| |
| X | g.30304807C>T | CA515716979 | NR0B1 | c.1185G>A (p.Gln395=)
| |
| X | g.30304808T>A | CA412545709 | NR0B1 | c.1184A>T (p.Gln395Leu)
| |
| X | g.30304808T>C | CA412545707 | NR0B1 | c.1184A>G (p.Gln395Arg)
| |
| X | g.30304808T>G | CA412545705 | NR0B1 | c.1184A>C (p.Gln395Pro)
| |
| X | g.30304809G>A | CA255629 | NR0B1 | c.1183C>T (p.Gln395Ter)
| ClinVar dbSNP |
| X | g.30304809G>C | CA412545712 | NR0B1 | c.1183C>G (p.Gln395Glu)
| |
| X | g.30304809G= | CA2422039235 | NR0B1 | c.1183C= (p.Gln395=)
| |
| X | g.30304809G>T | CA412545713 | NR0B1 | c.1183C>A (p.Gln395Lys)
| |
| X | g.30304810C>A | CA515716990 | NR0B1 | c.1182G>T (p.Leu394=)
| |
| X | g.30304810C= | CA2422039236 | NR0B1 | c.1182G= (p.Leu394=)
| |
| X | g.30304810C>G | CA515716992 | NR0B1 | c.1182G>C (p.Leu394=)
| |
| X | g.30304810C>T | CA515716995 | NR0B1 | c.1182G>A (p.Leu394=)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.30304811A>C | CA412545715 | NR0B1 | c.1181T>G (p.Leu394Arg)
| |
| X | g.30304811A>G | CA412545716 | NR0B1 | c.1181T>C (p.Leu394Pro)
| |
| X | g.30304811A>T | CA412545717 | NR0B1 | c.1181T>A (p.Leu394Gln)
| |
| X | g.30304812G>A | CA515716997 | NR0B1 | c.1180C>T (p.Leu394=)
| |
| X | g.30304812G>C | CA412545720 | NR0B1 | c.1180C>G (p.Leu394Val)
| |
| X | g.30304812G>T | CA412545722 | NR0B1 | c.1180C>A (p.Leu394Met)
| |
| X | g.30304812_30304815del | CA2695232154 | NR0B1 | c.1177_1180del (p.Gly393CysfsTer4)
| |
| X | g.30304813G>A | CA515717001 | NR0B1 | c.1179C>T (p.Gly393=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.30304813G>C | CA515717003 | NR0B1 | c.1179C>G (p.Gly393=)
| |
| X | g.30304813G= | CA2422039237 | NR0B1 | c.1179C= (p.Gly393=)
| |
| X | g.30304813G>T | CA515717006 | NR0B1 | c.1179C>A (p.Gly393=)
| dbSNP |
| X | g.30304814C>A | CA412545725 | NR0B1 | c.1178G>T (p.Gly393Val)
| |
| X | g.30304814C>G | CA412545726 | NR0B1 | c.1178G>C (p.Gly393Ala)
| |
| X | g.30304814C>T | CA412545729 | NR0B1 | c.1178G>A (p.Gly393Asp)
| COSMIC |
| X | g.30304816del | CA2693382733 | NR0B1 | c.1178del (p.Gly393AlafsTer5)
| gnomAD v4 |
| X | g.30304815C>A | CA412545734 | NR0B1 | c.1177G>T (p.Gly393Cys)
| |
| X | g.30304815C>G | CA412545733 | NR0B1 | c.1177G>C (p.Gly393Arg)
| |
| X | g.30304815C>T | CA412545732 | NR0B1 | c.1177G>A (p.Gly393Ser)
| |
| X | g.30304816C>A | CA515717017 | NR0B1 | c.1176G>T (p.Pro392=)
| |
| X | g.30304816C= | CA2422039238 | NR0B1 | c.1176G= (p.Pro392=)
| |
| X | g.30304816C>G | CA515717019 | NR0B1 | c.1176G>C (p.Pro392=)
| |
| X | g.30304816C>T | CA10376281 | NR0B1 | c.1176G>A (p.Pro392=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.30304817G>A | CA412545737 | NR0B1 | c.1175C>T (p.Pro392Leu)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
| X | g.30304817G>C | CA412545739 | NR0B1 | c.1175C>G (p.Pro392Arg)
| |
| X | g.30304817G= | CA2422039239 | NR0B1 | c.1175C= (p.Pro392=)
| |
| X | g.30304817G>T | CA412545741 | NR0B1 | c.1175C>A (p.Pro392Gln)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.30304818G>A | CA412545743 | NR0B1 | c.1174C>T (p.Pro392Ser)
| |
| X | g.30304818G>C | CA412545745 | NR0B1 | c.1174C>G (p.Pro392Ala)
| |
| X | g.30304818G>T | CA412545747 | NR0B1 | c.1174C>A (p.Pro392Thr)
| |
| X | g.30304819C>A | CA515717038 | NR0B1 | c.1173G>T (p.Val391=)
| |
| X | g.30304819C>G | CA515717041 | NR0B1 | c.1173G>C (p.Val391=)
| |
| X | g.30304819C>T | CA515717044 | NR0B1 | c.1173G>A (p.Val391=)
| |
| X | g.30304820A>C | CA412545749 | NR0B1 | c.1172T>G (p.Val391Gly)
| |
| X | g.30304820A>G | CA412545751 | NR0B1 | c.1172T>C (p.Val391Ala)
| |
| X | g.30304820A>T | CA412545753 | NR0B1 | c.1172T>A (p.Val391Glu)
| |
| X | g.30304821C>A | CA412545755 | NR0B1 | c.1171G>T (p.Val391Leu)
| COSMIC |
| X | g.30304821C= | CA2422039240 | NR0B1 | c.1171G= (p.Val391=)
| |
| X | g.30304821C>G | CA412545757 | NR0B1 | c.1171G>C (p.Val391Leu)
| dbSNP |
| X | g.30304821C>T | CA412545759 | NR0B1 | c.1171G>A (p.Val391Met)
| dbSNP gnomAD v4 |
| X | g.30304822G>A | CA10376282 | NR0B1 | c.1170C>T (p.Asp390=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30304822G>C | CA412545762 | NR0B1 | c.1170C>G (p.Asp390Glu)
| |
| X | g.30304822G= | CA2422039241 | NR0B1 | c.1170C= (p.Asp390=)
| |
| X | g.30304822G>T | CA412545764 | NR0B1 | c.1170C>A (p.Asp390Glu)
| gnomAD v4 |
| X | g.30304823T>A | CA412545767 | NR0B1 | c.1169A>T (p.Asp390Val)
| |
| X | g.30304823T>C | CA412545768 | NR0B1 | c.1169A>G (p.Asp390Gly)
| |
| X | g.30304823T>G | CA412545770 | NR0B1 | c.1169A>C (p.Asp390Ala)
| |
| X | g.30304824C>A | CA412545773 | NR0B1 | c.1169-1G>T (n.1169-1G>T)
| ClinVar |
| X | g.30304824C= | CA2422039242 | NR0B1 | c.1169-1G= (n.1169-1G=)
| |
| X | g.30304824C>G | CA412545775 | NR0B1 | c.1169-1G>C (n.1169-1G>C)
| |
| X | g.30304824C>T | CA412545777 | NR0B1 | c.1169-1G>A (n.1169-1G>A)
| ClinVar dbSNP |
| X | g.30304825T>A | CA412545779 | NR0B1 | c.1169-2A>T (n.1169-2A>T)
| |
| X | g.30304825T>C | CA412545780 | NR0B1 | c.1169-2A>G (n.1169-2A>G)
| |
| X | g.30304825T>G | CA412545782 | NR0B1 | c.1169-2A>C (n.1169-2A>C)
| |
| X | g.30304827G>A | CA2693382734 | NR0B1 | c.1169-4C>T (n.1169-4C>T)
| gnomAD v4 |
| X | g.30304827G= | CA2422039243 | NR0B1 | c.1169-4C= (n.1169-4C=)
| |
| X | g.30304827G>T | CA2693382735 | NR0B1 | c.1169-4C>A (n.1169-4C>A)
| gnomAD v4 |
| X | g.30304830_30304831insAGAAAAAGG | CA2422039244 | NR0B1 | c.1169-5_1169-4insTTTTCTCCT (n.1169-5_1169-4insTTTTCTCCT)
| dbSNP |
| X | g.30304829G>A | CA327974260 | NR0B1 | c.1169-6C>T (n.1169-6C>T)
| dbSNP gnomAD v4 |
| X | g.30304829G= | CA2422039245 | NR0B1 | c.1169-6C= (n.1169-6C=)
| |
| X | g.30304829G>T | CA2693382736 | NR0B1 | c.1169-6C>A (n.1169-6C>A)
| gnomAD v4 |
| X | g.30304831G>A | CA2820261572 | NR0B1 | c.1169-8C>T (n.1169-8C>T)
| |
| X | g.30304831G= | CA2422039246 | NR0B1 | c.1169-8C= (n.1169-8C=)
| |
| X | g.30304831G>T | CA874615163 | NR0B1 | c.1169-8C>A (n.1169-8C>A)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.30304833G>A | CA2740092078 | NR0B1 | c.1169-10C>T (n.1169-10C>T)
| ClinVar |
| X | g.30304835A>G | CA2693382737 | NR0B1 | c.1169-12T>C (n.1169-12T>C)
| gnomAD v4 |
| X | g.30304837A>T | CA2693382738 | NR0B1 | c.1169-14T>A (n.1169-14T>A)
| gnomAD v4 |
| X | g.30304839T>C | CA327974262 | NR0B1 | c.1169-16A>G (n.1169-16A>G)
| dbSNP |
| X | g.30304839T= | CA2422039247 | NR0B1 | c.1169-16A= (n.1169-16A=)
| |
| X | g.30304840C>A | CA2693382739 | NR0B1 | c.1169-17G>T (n.1169-17G>T)
| gnomAD v4 |
| X | g.30304842C= | CA2422039248 | NR0B1 | c.1169-19G= (n.1169-19G=)
| |
| X | g.30304845dup | CA2422039249 | NR0B1 | c.1169-20dup (n.1169-20dup)
| dbSNP |
| X | g.30304847T>A | CA2693382740 | NR0B1 | c.1169-24A>T (n.1169-24A>T)
| gnomAD v4 |
| X | g.30304849A= | CA2422039250 | NR0B1 | c.1169-26T= (n.1169-26T=)
| |
| X | g.30304849A>G | CA640974718 | NR0B1 | c.1169-26T>C (n.1169-26T>C)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.30304849_30304850delinsAT | CA2422039251 | NR0B1 | c.1169-27_1169-26delinsAT (n.1169-27_1169-26delinsAT)
| |
| X | g.30304850del | CA2422039252 | NR0B1 | c.1169-27del (n.1169-27del)
| dbSNP |
| X | g.30304852A>G | CA2693382741 | NR0B1 | c.1169-29T>C (n.1169-29T>C)
| gnomAD v4 |
| X | g.30304858C>A | CA1132010739 | NR0B1 | c.1169-35G>T (n.1169-35G>T)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.30304858C= | CA2422039253 | NR0B1 | c.1169-35G= (n.1169-35G=)
| |
| X | g.30304860C>A | CA2422039255 | NR0B1 | c.1169-37G>T (n.1169-37G>T)
| dbSNP gnomAD v4 |
| X | g.30304860C= | CA2422039254 | NR0B1 | c.1169-37G= (n.1169-37G=)
| |
| X | g.30304861_30304862delinsAC | CA2422039256 | NR0B1 | c.1169-39_1169-38delinsGT (n.1169-39_1169-38delinsGT)
| |
| X | g.30304863del | CA2422039257 | NR0B1 | c.1169-39del (n.1169-39del)
| dbSNP |
| X | g.30304863C= | CA2422039258 | NR0B1 | c.1169-40G= (n.1169-40G=)
| |
| X | g.30304863C>T | CA2422039259 | NR0B1 | c.1169-40G>A (n.1169-40G>A)
| dbSNP |
| X | g.30304864A>G | CA2693382742 | NR0B1 | c.1169-41T>C (n.1169-41T>C)
| gnomAD v4 |
| X | g.30304865C= | CA2422039260 | NR0B1 | c.1169-42G= (n.1169-42G=)
| |
| X | g.30304865C>T | CA10376283 | NR0B1 | c.1169-42G>A (n.1169-42G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.30304866A= | CA2422039261 | NR0B1 | c.1169-43T= (n.1169-43T=)
| |
| X | g.30304866A>C | CA327974270 | NR0B1 | c.1169-43T>G (n.1169-43T>G)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.30304867G>T | CA2693382743 | NR0B1 | c.1169-44C>A (n.1169-44C>A)
| gnomAD v4 |
| X | g.30304868del | CA2579577178 | NR0B1 | c.1169-45del (n.1169-45del)
| |
| X | g.30304869G>A | CA10376284 | NR0B1 | c.1169-46C>T (n.1169-46C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30304869G= | CA2422039262 | NR0B1 | c.1169-46C= (n.1169-46C=)
| |
| X | g.30304869G>T | CA2693382744 | NR0B1 | c.1169-46C>A (n.1169-46C>A)
| gnomAD v4 |
| X | g.30304872C>A | CA2693382745 | NR0B1 | c.1169-49G>T (n.1169-49G>T)
| gnomAD v4 |
| X | g.30304872C= | CA2422039263 | NR0B1 | c.1169-49G= (n.1169-49G=)
| |
| X | g.30304872C>T | CA327974279 | NR0B1 | c.1169-49G>A (n.1169-49G>A)
| dbSNP gnomAD v4 |
| X | g.30304873T>C | CA2693382746 | NR0B1 | c.1169-50A>G (n.1169-50A>G)
| gnomAD v4 |
| X | g.30304875del | CA2579577179 | NR0B1 | c.1169-50del (n.1169-50del)
| |
| X | g.30304874T>C | CA10376285 | NR0B1 | c.1169-51A>G (n.1169-51A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30304874T= | CA2422039264 | NR0B1 | c.1169-51A= (n.1169-51A=)
| |
